Associated Papers
Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination.
Steinthorsdottir V et al.
Nature Structural & Molecular Biology, 2024
38287193 (PubMed )
Supplement: 41594_2023_1209_MOESM1_ESM.pdf
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Cukier HN et al.
Npj Parkinson's Disease, 2022
35768426 (PubMed )
Supplement: 41531_2022_346_MOESM2_ESM.xlsx › SupTab1
Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia.
Guggenheim JA et al.
Human Molecular Genetics, 2022
35022715 (PubMed )
Supplement: hmg_r2_supplement_ddac004.pdf
In silico analysis of a novel pathogenic variant c.7G > A in C14orf39 gene identified by WES in a Pakistani family with azoospermia.
Ali H et al.
Molecular Genetics and Genomics : Mgg, 2022
Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.
Fan S et al.
American Journal of Human Genetics, 2021
Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits.
Grassmann F et al.
Genome Medicine, 2017
C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility.
Gómez-H L et al.
Nature Communications, 2016
Aberrant activation of the PI3K/mTOR pathway promotes resistance to sorafenib in AML.
Lindblad O et al.
Oncogene, 2016
26999641 (PubMed )
Supplement: onc201641x2.pdf
Common and low-frequency variants associated with genome-wide recombination rate.
Kong A et al.
Nature Genetics, 2014
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